A Progressive Disease with No Cure
On Monday, August 15, 2016. We met with the biochemical geneticist to receive the worst news any parent can ever imagine. Noah’s lab results showed no enzyme activity for iduronate 2 sulfatase, an enzyme missing from MPS II patients, also commonly referred to as Hunter’s Syndrome. The last pieces of our hearts fell to the floor. This could not have been real. We prayed for a healthy child. There is no history of this disease in either side of our families.
Mucopolysaccharidosis II is a rare lysosomal storage diseases (LSD) caused by the body’s inability to produce iduronate 2 sulfatase enzymes. Without these enzymes, glycosaminoglycans (GAG) accumulate and remain stored in cells causing progressive damage throughout the body.
It is every father’s dream to raise a boy to follow his footsteps, or to succeed his passion. I had dreams of taking Noah to basketball practice and attending all of his games. I had dreams of giving him life advice for whatever passion he wanted to pursue. Some parents want their kids to be doctors. Some parents want their kids to be engineers. Some parents want their kids to be lawyers. We just want our son to be alive.
MPS II is a progressive metabolic disorder that will progressively take Noah’s life away. Children with MPS gradually lose the ability to walk, to talk, to hear, to see, to think, and ultimately the ability to live. We will be lucky to have Noah live through his teens.
Currently, there is no cure for this disease. The only effective treatment available is ERT enzyme replacement therapy, which is a weekly 3-4 hour intravenous infusion that would help Noah slow down the progression of the disease. Since the medicine will not cross the BBB (Blood Brain Barrier), it will not reach his brain and prevent any neurological decline. Bone marrow transplantation is a very high-risk procedure that has shown great effect on MPS I, but disappointing results for MPS II.
Noah’s life will be comprised of frequent visits to the pediatrician, ENT, geneticist, cardiologist, pulmonologist, neurologist, ophthalmologist, orthopedic surgeon, and orthodontist. He will also require weekly physical therapy, occupational therapy, and speech therapy sessions for the rest of his life.
This rare genetic mutation affects 1 in 100,000 male births. MPS is so rare that it is considered an orphan disease. Only a handful of scientists and companies are researching and developing better treatments for this disease. Such promising treatments in clinical trials include: AGT-182 enzyme therapy, Intrathecal IT-idursulfase infusion, and AAV9 gene therapy, but it will take years for it to be available to be used in practice.